Canonical Allele Identifier: CA1779760567
Gene: HGSNAT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.43193765C= , CM000670.2:g.43193765C= GRCh38
NC_000008.10:g.43048908C= , CM000670.1:g.43048908C= GRCh37
NC_000008.9:g.43168065C= NCBI36
NG_009552.1:g.58317C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000379644.9:c.1386C= MANE Select ENSP00000368965.4:p.Tyr462=
ENST00000379644.8:c.1386C= ENSP00000368965.4:p.Tyr462=
ENST00000520678.1:n.319C=
ENST00000521576.1:c.537C= ENSP00000429029.1:p.Tyr179=
ENST00000524016.5:c.490C=
NM_152419.2:c.1386C= NP_689632.2:p.Tyr462=
XM_005273409.1:c.1386C= XP_005273466.1:p.Tyr462=
XM_005273410.1:c.1386C= XP_005273467.1:p.Tyr462=
XM_005273411.1:c.1194C= XP_005273468.1:p.Tyr398=
XM_005273412.2:c.1386C= XP_005273469.1:p.Tyr462=
NM_001363227.1:c.1386C= NP_001350156.1:p.Tyr462=
NM_001363228.1:c.1194C= NP_001350157.1:p.Tyr398=
NM_001363229.1:c.522C= NP_001350158.1:p.Tyr174=
XM_005273412.4:c.1386C= XP_005273469.1:p.Tyr462=
NM_152419.3:c.1386C= MANE Select NP_689632.2:p.Tyr462=
NM_001363227.2:c.1386C= NP_001350156.1:p.Tyr462=
NM_001363228.2:c.1194C= NP_001350157.1:p.Tyr398=
NM_001363229.2:c.522C= NP_001350158.1:p.Tyr174=